Strain Data Sheet

RBRC09741

Strain Information

Image
BRC No.RBRC09741
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameB6.C3-Hps4<le>/Gku
Former Common name
H-2 Haplotype
ES Cell line
Background strainC57BL/6JJmsSlc
Appearance
Strain developmentDeveloped by Go Kuratomi, Dokkyo Medical University in 2014. B6.C3-Pde6brd1Hps4le/J (Stock number:000002) were intercrossed each other to segregate Pde6brd1 and Hps4le. B6 congenic strain.
Strain descriptionLight-ear (le) is a spontaneous mutation in Hps4 (Hermansky-Pudlak syndrome 4 homolog (human)). Retinal degeneration 1 (Pde6brd1) was corrected in this B6-congenic strain
Colony maintenance
References
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Suzuki T, Li W, Zhang Q, Karim A, Novak E K, Sviderskaya E V, Hill S P, Bennett D C, Levin A V, Nieuwenhuis H K, Fong C T, Castellan C, Miterski B, Swank R T, Spritz R A
Nature Genetics, 30, 321-324 (2002). 11836498

Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.
Kuratomi G, Saito A, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Inukai T, Mori H, Ohmori K, Akiyama K
BMC Psychiatry. 2013 Oct 30;13:276. doi: 10.1186/1471-244X-13-276. 24168225

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Hps4HPS4, biogenesis of lysosomal organelles complex 3 subunit 25Hps4light-ear
  • Hermansky-Pudlak syndrome 4(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal choroid pigmentation(MP:0005100)

  • abnormal ear pigmentation(MP:0000015)

  • abnormal eye pigmentation(MP:0001324)

  • abnormal melanosome morphology(MP:0005075)

  • abnormal platelet dense granule morphology(MP:0004721)
    • more 10 phenotypes
  • abnormal platelet physiology(MP:0005464)

  • abnormal retina pigment epithelium morphology(MP:0005201)

  • abnormal skin pigmentation(MP:0002095)

  • decreased lysosomal enzyme secretion(MP:0003173)

  • decreased platelet serotonin level(MP:0004725)

  • decreased susceptibility to atherosclerosis(MP:0005341)

  • decreased urine protein level(MP:0002963)

  • diluted coat color(MP:0000371)

  • increased bleeding time(MP:0005606)

  • increased lysosomal enzyme secretion(MP:0003174)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationDermatology Research
    Mouse Models for Human Disease
    Sensorineural Research
    Specific Term and ConditionsIn publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. (will be announced.)
    DepositorGo Kuratomi (Dokkyo Medical University)
    Strain Statusan icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    Cryopreserved embryos (within 1 month)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data